title: Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia.
abstract: The ichthyosis follicular with atrichia and photophobia syndrome (IFAP) is a rare X-linked multiple congenital malformation syndrome. Some male patients have additional features including brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies and kidney dysplasia/hypoplasia (BRESEK syndrome) sometimes associated with Hirschsprung disease and cleft palate or cryptorchidism (BRESHECK syndrome). We report a 5 months-old male patient with the p.R429H mutation in MBTPS2 protein, which has been reported to be associated with the most severe phenotype of patients with IFAP/BRESHECK syndrome. This patient presented with a severe IFAP/BRESHECK phenotype including ichthyosis follicular, atrichia, photophobia, brain anomalies, global developmental delay, Hirschsprung disease and kidney hypoplasia. Additional features not previously reported in IFAP syndrome, include severe hypogammaglobulinemia and congenital rectourethral fistula.
authors.affiliation: Pediatric Department, São João Hospital, Porto, Portugal. Electronic address: susanamcorujeira@gmail.com.
authors.forename: Susana
authors.initials: S
authors.lastname: Corujeira
authors.forename: Sofia
authors.initials: S
authors.lastname: Águeda
authors.forename: Georgina
authors.initials: G
authors.lastname: Monteiro
authors.forename: Aurea
authors.initials: A
authors.lastname: Canelhas
authors.forename: Mafalda
authors.initials: M
authors.lastname: Sampaio
authors.forename: Ruben
authors.initials: R
authors.lastname: Rocha
authors.forename: Miguel
authors.initials: M
authors.lastname: Leão
mesh_terms: D000361:Agammaglobulinemia / Q000175:diagnosis* / Q000235:genetics; D001921:Brain / Q000002:abnormalities*; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000235:genetics; D004423:Ear / Q000002:abnormalities*; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics; D010641:Phenotype
chemical_list: D008666:Metalloendopeptidases; C120654:MBTPS2 protein, human
keywords: BRESEK/BRESHECK syndrome; Hirschsprung disease; Hypogammaglobulinemia; IFAP syndrome; MBTPS2; Rectal fistula